DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Albinism [C16.320.565.100.102] Albinism Alkaptonuria [C16.320.565.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C16.320.565.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C16.320.565.100.480] Hyperhomocysteinemia Hyperlysinemias [C16.320.565.100.544] Hyperlysinemias Maple Syrup Urine Disease [C16.320.565.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C16.320.565.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C16.320.565.100.766] Phenylketonurias Prolidase Deficiency [C16.320.565.100.794] Prolidase Deficiency Propionic Acidemia [C16.320.565.100.823] Propionic Acidemia Tyrosinemias [C16.320.565.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.100.940] Urea Cycle Disorders, Inborn DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Albinism [C18.452.648.100.102] Albinism Alkaptonuria [C18.452.648.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C18.452.648.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C18.452.648.100.480] Hyperhomocysteinemia Hyperlysinemias [C18.452.648.100.544] Hyperlysinemias Maple Syrup Urine Disease [C18.452.648.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.648.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C18.452.648.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C18.452.648.100.766] Phenylketonurias Propionic Acidemia [C18.452.648.100.823] Propionic Acidemia Tyrosinemias [C18.452.648.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.648.100.940] Urea Cycle Disorders, Inborn DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Mitochondrial Diseases [C18.452.660] Mitochondrial Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.660.097] Carbamoyl-Phosphate Synthase I Deficiency Disease Cytochrome-c Oxidase Deficiency [C18.452.660.195] Cytochrome-c Oxidase Deficiency Friedreich Ataxia [C18.452.660.300] Friedreich Ataxia Leigh Disease [C18.452.660.520] Leigh Disease Mitochondrial Myopathies [C18.452.660.560] Mitochondrial Myopathies Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.660.612] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Optic Atrophy, Autosomal Dominant [C18.452.660.665] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C18.452.660.670] Optic Atrophy, Hereditary, Leber Pyruvate Carboxylase Deficiency Disease [C18.452.660.705] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.660.710] Pyruvate Dehydrogenase Complex Deficiency Disease

Multiple Acyl Coenzyme A Dehydrogenase Deficiency - Preferred

Concept UI	M0500981
Scope note	An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Preferred term	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Entry term(s)	Aciduria, Ethylmalonic-Adipic Acidurias, Ethylmalonic-Adipic Electron Transfer Flavoprotein Deficiency Ethylmalonic Adipic Aciduria Ethylmalonic Adipicaciduria Ethylmalonic-Adipic Aciduria Ethylmalonic-Adipic Acidurias Ethylmalonic-Adipicaciduria Glutaric Acidemia Type II Glutaric Acidemia, Type 2 Glutaric Aciduria II Glutaric Aciduria Type 2 Glutaric Aciduria Type II Glutaric Aciduria, Type 2 MADD (Multiple Acyl CoA Dehydrogenase Deficiency) MADD (Multiple Acyl-CoA Dehydrogenase Deficiency) MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency) Multiple Acyl CoA Dehydrogenase Deficiency Multiple Acyl-CoA Dehydrogenase Deficiency Multiple FAD Dehydrogenase Deficiency

Glutaric Aciduria IIC - Narrower

Concept UI	M0500984
Preferred term	Glutaric Aciduria IIC
Entry term(s)	ETFDH Deficiencies ETFDH Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency

Glutaric Aciduria IIA - Narrower

Concept UI	M0500982
Preferred term	Glutaric Aciduria IIA
Entry term(s)	ETFA Deficiencies ETFA Deficiency Electron Transfer Flavoprotein Alpha Subunit Deficiency

Glutaric Aciduria IIB - Narrower

Concept UI	M0500983
Preferred term	Glutaric Aciduria IIB
Entry term(s)	ETFB Deficiencies ETFB Deficiency Electron Transfer Flavoprotein Beta Subunit Deficiency